Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.3197G>A

cDNA Name	c.3197G>A
Protein Name	p.Arg1066His
Exon or Intron	exon 20
Legacy Exon or Intron	exon 17b
Legacy Name	R1066H
Other Details	This mutation was found on one CF chromosome, the other haplotype carries an unidentified mutation. The child is twenty years old, pancreatic sufficient, that missense mutation could be considered as a mild allele.
Contributors	Mercier B, Audrezet MP, Quere I, Guillermit H, Verlingue C 1991-09-19
Institute	Centre de Transfusion Sanguine et de Biogenetique Brest, France
Phenotype Information	CFTR2
Reference	Férec et al. 1992

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Literature referencing this mutation. Sort by:
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

Cremonesi L, Cainarca S, Rossi A, Padoan R, Ferrari M Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis. 1996 007;98(1):119-21

Gelfi C, Righetti PG, Cremonesi L, Ferrari M Detection of point mutations by capillary electrophoresis in liquid polymers in temporal thermal gradients. 1994 012;15(12):1506-11

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The Database was last updated at Apr 25, 2011